The article will discuss the progressive muscular dystrophy of Erba-Roth.
Muscle dystrophy is a genetic disease that occurs in a chronic form that affects the human muscular system. The muscles affected by the pathological process cease to function normally, gradually thin out, and in their place, an increase in the layer of fat begins over time.
The main types of dystrophy
There are several common types of muscular dystrophy:
1. Duchenne dystrophy, otherwise called pseudohypertrophic or negative congenital dystrophy. Pathology manifests itself in childhood, in the interval between two and five years. At the initial stage of development, mainly the muscles of the lower body are affected. In children, leading a sedentary lifestyle, the muscles of the legs begin to increase. This is due to the replacement of muscles with fat.
The gradual progression of pathology leads to damage to the upper body, reaching the hands. With the standard course of the disease by the age of 12, the child completely loses the ability to move. There is a high probability of death, it is 85-90% before the child reaches the age of twenty.
2. Steinert's disease. This is a congenital pathology, also called myotonic disease. Myotonia is understood as too slow a process of muscle relaxation after contraction. Pathology affects adults aged 20-40 years. There are also cases of morbidity in children during the neonatal period, but this is an exception to the rule. The disease is not linked to gender characteristics, both women and men are equally affected. Steinert's pathology is accompanied by a weakening of the facial muscles responsible for facial expressions, as well as limbs. The course of the disease is not rapid, progression can occur over a long period of time.
3. Becker pathology. This disease also has a long development. At the initial stage, it passes latently, and the patient does not experience any difficulties for a long time. The pathology acquires an aggravated form due to trauma or diseases of the nervous system that provoke the progression of the disease.
4. The disease of Landusi-Dejerine. This pathology has no age limits and can affect both children from five years old and adults up to 55 years old. Mostly the shoulder-scapular-facial region of the body is affected. A characteristic feature of the pathology is prolonged progression, which can allow the patient to remain able to work for several decades. The main signs of the pathological process is damage to the muscles of the face, which leads to impaired speech function. This is due to the inability to completely close your lips. This symptom also applies to the eyelids, which may not close completely. With the further development of the disease, atrophy of the muscles of the face, shoulders, limbs and trunk occurs, which completely immobilizes the person.
5. The distal type of muscle dystrophy. It is a benign form of progressive dystrophy. Quite often, the diagnosis of pathology is confused with Mari-Charcot's neural amyotrophy . To differentiate the pathology data, an electroencephalogram is prescribed, which allows you to clarify the diagnosis. Characteristic signs of the development of pathology is the loss of muscle function in the arms and legs with their further thinning. Against the background of the distal form of dystrophy, paresis of the hands and feet is observed.
6. Myodystrophy named after Emery-Dreyfus. Initially, this type of pathology was not allocated to a separate disease. This was due to the fact that in appearance the disease resembles Duchenne dystrophy. But with a more detailed study of both pathologies, it was found that Emery-Dreyfus myodystrophy is a separate disease with characteristic symptoms.
This form of dystrophy is rare. It affects patients who are under 30 years old. Isolated cases have been reported at an older age. The main difference between this form of dystrophy from others is damage to the heart muscles, which can lead to the death of the patient. All other signs of the disease are more sparing than with Duchenne pathology.
We turn to the consideration of muscular dystrophy of Erba-Roth.
Description
Erb-Roth juvenile myopathy is a disease of genetic origin that can affect children of perfectly healthy parents. Most often, pathology begins to progress in adolescence. The vast majority of diagnoses occur between the ages of 14 and 18 years. Erb's pathology is also called muscle dryness.
The disease was first mentioned in 1884 by the German neurosurgeon Heinrich Erb, which gave the name to the pathology he described.
Causes
Erba-Roth muscular dystrophy is a primary type of disease that occurs as an independent pathology due to a hereditary or genetic factor. That is, the main reason for the development of myopathy of this type is a violation in the genes. Accordingly, if the disease is not caused by a hereditary predisposition, then its cause lies in gene failure.
The most common prerequisite for the development of Erb-Roth’s muscle-progressing pathology is intrauterine malformations of the fetus, caused, among other things, by the unhealthy habits of the expectant mother: smoking, drug use and alcohol. These factors are especially affected at an early stage of fetal development.
What else can cause a gene disorder?
A violation in the genes can also be caused by a woman working in hazardous work, living permanently in an environment of unfavorable ecology, working with chemicals while carrying a child, etc. These factors can adversely affect chromosomal development. In addition, the proven fact is that the youthful muscular dystrophy of Erba-Roth develops as a result of the birth of a child in a woman older than 40 years of age.
Signs of myopathy
The main sign of Erb's pathology is muscle weakness. This symptom is constantly present, while not delivering a person painful sensations. Weakness in the muscles does not go away even after a prolonged stay in a state of rest. At the initial stage of the course of Erba-Rota disease, there may be a slight improvement in the patient's condition after a night’s sleep, but this quickly passes and the weakness comes back.
First of all, the muscles located on the hips and in the pelvic girdle are affected. In the future, the disease spreads to the muscles of the trunk and shoulder girdle. Pseudohypertrophy, accompanied by an increase in volume through the growth of adipose tissue and the death of muscle, occurs with muscular dystrophy of Erba-Rota extremely rarely.
In the future, the disease is characterized by thinning and subsequent atrophy of the muscles of the limbs and trunk. Muscle mobility decreases, and the tissues themselves become thinner. Almost all the muscles of a person are affected by Erb’s disease, however, the pathology progresses slowly and there is the possibility of maintaining the ability to walk up to forty years.
Reduced muscle tone is another feature of Erb muscular dystrophy. The muscles at the same time become lethargic and sagging. As a result of such changes, a person begins to have problems with the spinal area, there is a pronounced curvature, lordoses, scoliosis, kyphosis , etc. The listed diseases are not treatable and in the future also begin to progress.
Diagnostics
There are quite a few diagnostic methods for identifying Erba-Roth dystrophy, as well as differentiating it from other pathological processes. At the first visit, a specialist will collect a patient’s medical history and clarify any complaints and symptoms. Next, a survey plan is prepared, which may include the following diagnostic procedures:
Electromyography.
Scraping muscle tissue for research.
Genetic test.
Blood and urine tests.
Consultation of a therapist, orthopedist, gynecologist and other specialists.
It must be remembered that the later the disease manifests itself, the better for the patient. This is due to the fact that with the manifestation of pathology at an early age, the probability of a fatal outcome is high.
Treatment of Erba-Roth myopathy with medication
Muscle dystrophy therapy is a complex and lengthy process. At the moment, no drugs have been developed that can completely cure the patient. All therapeutic methods are aimed at improving the patient's condition and restore some functions inhibited by pathology.
To stop the progression of dystrophy, the following drugs are used:
- Corticosteroids.
- Vitamin B1.
- Adenosine triphosphate.
In addition, implantation of fetal stem cells is used to slow the development of the pathological process.
Other therapeutic methods
The following therapeutic methods are prescribed as prophylaxis:
- Physiotherapeutic procedures.
- Massage.
- Breathing exercises.
There are three main principles that should be followed in case of limb-waist muscular dystrophy of Erba-Roth - physical activity of adequate intensity, proper nutrition, timely receipt of psychologist support.
Principles of supporting the body with muscle dystrophy
Often, patients with Erb pathology have an unwillingness to fight the disease, which negatively affects the body as a whole. As a result of the lack of physical activity, the progression of pathology is aggravated and accelerated. Muscles should receive the load in the required volume.
Experts recommend a moderate load on the body, as well as the use of special supportive bandages and other devices. With dystrophy of the muscles, visiting the pool, yoga and stretching is well suited.
A very important stage of patient support is psychological support. Sometimes the support of relatives and friends is sufficient, but in some cases, qualified assistance may be required. It is important for a person with a similar diagnosis to know that he is not alone and there are people who support him, empathize and are always ready to help.
Diet
Equally important is adherence to a special diet during Erba-Roth myodystrophy. The diet should relieve inflammation, normalize the level of glucose in the blood, and also removes toxins from the body, while providing the tissue with the necessary nutrients. The main principles of therapeutic nutrition for muscular dystrophy are:
- Refusal of harmful fats.
- Meat and fish should be "clean", without antibiotics and hormones.
- Lack of gluten and sugar in the diet.
- Supplementing the diet with plenty of green vegetables and spices.
- The lack of carbonated drinks, as well as artificial colors.
- Milk should be consumed only by goat.
With Erba-Roth pathology, treatment should be comprehensive and timely.
Prevention
Predicting the appearance of muscle dystrophy, as well as detecting it at an early stage, is quite difficult. Therefore, the prevention of pathology involves the fulfillment of two rules:
- A full and detailed examination of a woman when planning pregnancy. Particular attention should be paid to the presence of mutated genes.
- During pregnancy (if it was not done before conception), a test is performed to detect chromosome mutations.
Forecast
The prognosis of survival depends on the type of disease, as well as the complications that the pathology can lead to. Among the concomitant diseases and conditions of muscular dystrophy, the following are distinguished:
- Violation of the heart.
- Spinal curvature.
- Impaired motor activity.
- Decrease in mental abilities of the patient.
- Impaired respiratory function.
Conclusion
Erba-Roth's progressive muscular dystrophy is a serious and incurable disease that can lead to complete immobilization of a person. When planning a child, parents should carefully approach the question of screening for genetic mutations.